LOCUS       AF035753                3292 bp    DNA     linear   HUM 25-JUL-2016
DEFINITION  Homo sapiens endoglin (END) gene, promoter region, exon 1 and
            partial cds.
ACCESSION   AF035753
VERSION     AF035753.1
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3292)
  AUTHORS   Rius,C., Smith,J.D., Almendro,N., Langa,C., Botella,L.M.,
            Marchuk,D.A., Vary,C.P. and Bernabeu,C.
  TITLE     Cloning of the promoter region of human endoglin, the target gene
            for hereditary hemorrhagic telangiectasia type 1
  JOURNAL   Blood 92 (12), 4677-4690 (1998)
   PUBMED   9845534
REFERENCE   2  (bases 1 to 3292)
  AUTHORS   Smith,J.D., Ruis,C., Marchuk,D.A., Bernabeu,C. and Vary,C.P.H.
  TITLE     Direct Submission
  JOURNAL   Submitted (24-NOV-1997) Center for Molecular Medicine, Maine
            Medical Center Research Institute, 125 John Roberts Rd., South
            Portland, ME 04106, USA
FEATURES             Location/Qualifiers
     source          1..3292
                     /organism="Homo sapiens"
                     /mol_type="genomic DNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q33"
                     /clone="cosmid 149H12"
     gene            1..>3292
                     /gene="END"
     repeat_region   1659..1955
                     /gene="END"
                     /rpt_family="Alu"
                     /rpt_type=dispersed
     mRNA            2619..>3034
                     /gene="END"
                     /product="endoglin"
     exon            2619..3034
                     /gene="END"
                     /number=1
     CDS             2968..>3034
                     /gene="END"
                     /function="TGF-beta binding protein"
                     /codon_start=1
                     /product="endoglin"
                     /protein_id="AAC32802.1"
                     /translation="MDRGTLPLAVALLLASCSLSPT"
BASE COUNT          619 a         1067 c          881 g          725 t
ORIGIN      
        1 ccgcggtggt cccaatctct tccttcctcc atgaggtgtc tggggtcggg gccccagttc
       61 ttcctggagt ccatctggag tctctcctac tttctagaga atccattggg tcttgtttac
      121 aacgtggatg gggacagact gtgcagcgtg gagggaaggg gagggaggga ggtttgggaa
      181 gagcctcctg tggggtcctg tcactgcccc agatgcccca acaccctgtg atacctgcac
      241 ccctgccaca tctgtccctc actccaaact cagctcaagg ggatggtggc agggaagaag
      301 gtgagcttgg aacccaggca gccctggggt caccacctcc agctggggtt cctcctctgt
      361 aaagtggagg tataacggta cccacctcct ggggtggctg tgaggattca gagctgataa
      421 ggtgaacgcc tagggcgggc cctggtgcag agagagcgct cagctcctag gctggattaa
      481 ctgtccctgg ggcacagatc tcggtctggg gcctgtggaa acctcagagc cacccctgaa
      541 cccccaccga gccacctttg cctcgcagtg ccatggcctc gtctccgagt tacaggaaaa
      601 ggcagagaat gcccttctca ggtggccctc tgggagagac actctccttg actccaaagc
      661 cacgcttggc tgcaaactgg gccagcacca caaggctggg caagcaaaca tcctaatccc
      721 accaaaacca caccgacctc caccctgtga cactctgcaa caaacacacg gcctactctt
      781 gtcacccggg ccggccaata agcacggaag aggcaaggcc tcagaccctg gacagacatc
      841 ctccctccag aggcacccag ggcctcagcc ttctcctccc tccctggcct caatttctcc
      901 acctgtgacc cagggcaggt ggatccaggg agaagaacct tctggctcca tctcaccgtg
      961 ggtcctgcca gcacacacaa agatttggcc tctcaaagcc tagctctgcc agcgtccttc
     1021 tgctcaagaa ctctccatga ctcccagtgg ccctaaggac aaagtcctgg catttgaggc
     1081 cctcccaatg cagggccaga ctctgcctct ccagcttcct gtccccacca cacccctgct
     1141 gtctcacggt ggtccgactg tttcctgctt ctgttgcttt gcttagtctg gcaccctgct
     1201 ggcatgcttt ctcacccttc ttccccaatc ccaactcacc cagtctttca aagggcaggc
     1261 taaataccag gcctccaggt ggcccaggat tcttctctga gctttcatgg gcctggccct
     1321 gggtgctacc tgtgagtagt cccacggtgg gtacatagta ggtgcgctta ctgtttgcaa
     1381 gaatgaacat gggacagttt ggggactgtc acccagctca gggagcactg atggggaagc
     1441 atctcctgta tgtcccaggg ctcagtgctg tagtgtcctg accctcagaa atctcataat
     1501 ggcttggtca ggaaggcatc gtgccccact ttgcaaacag ggggtgctga gaattgaggg
     1561 gccttgtcca aggtctcatg gctaggagca agcagaatcg gatttgaacc cagggccacg
     1621 tgacttcaga agtgccatta aagtccccat aatttggagc tgtcttcttt ttttttttct
     1681 tttctttttt tttgagaccg agcctcactc tgtcacctag gccaggagtg cagtggtctg
     1741 atctcagctc actgcaacct ccgcctccta ggttcaagtg attctctagc ctcagcctcc
     1801 caagtagctg ggactacagg cgcacgtcat catgcccagc taacttttgt atttttagta
     1861 gagatgggtt ttcaccatgt tggtcaggct ggtctcgaac tcctgacctc aagtgatccg
     1921 tctgcctcgg cctctcaaag tgctgggatt ataaggcttg agccactaca ctcggcctgg
     1981 agctgtgttt tgtcggtgaa ggattttcca cccatgaagg ggtcagacgt gaagtgtgtg
     2041 gccctgggca gctcctctga gcccagagac gccagcccta gccgccttgc tgtgccactt
     2101 tgggacttcc ctccctagcc tgagcttcag ttttcctgcc tgttaggcag ccccatgtca
     2161 actgcactta gtaggccggg tttgatgccc gacaagacgt gaagtggtgg aggtgggcag
     2221 gatcccagcg ctaccatctt cttgaaccag tgatctcaac acatcggatt tctgtttcct
     2281 catctgcaaa atgggatcag tgagctcagg tgggtcacaa attctacagg aactacttta
     2341 gccaagcccg gccccctgaa agttcccctc ggtgggctgt tagggtgatt gttttcatct
     2401 gtggggctcc tgatgcgtcc cacccaccag ccttggagag ggtgggatgg gagggtgggg
     2461 tgcttgggga gacaagccta gagcctgggc ctcccacccc actgcctccc cccatcccag
     2521 ggccccccac ccagtgacaa agcccgtggc acttcctcta cccggttggc aggcggcctg
     2581 gcccagcccc ttctctaagg aagcgcattt cctgcctccc tgggccggcc gggctggatg
     2641 agccgggagc tccctgctgc cggtcatacc acagccttca tctgcgccct ggggccagga
     2701 ctgctgctgt cactgccatc cattggagcc cagcaccccc tccccgccca tccttcggac
     2761 agcaactcca gcccagcccc gcgtccctgt gtccacttct cctgaccctc ggccgccacc
     2821 ccagaaggct ggagcaggga cgccgtcgct ccggccgcct gctcccctcg ggtccccgtg
     2881 cgagcccacg ccggccccgg tgcccgcccg cagccctgcc actggacaca ggataaggcc
     2941 cagcgcacag gcccccacgt ggacagcatg gaccgcggca cgctccctct ggctgttgcc
     3001 ctgctgctgg ccagctgcag cctcagcccc acaagtaggt gtccagggac ccagggtggg
     3061 gagactcggc ctccggtgca cggaccaggc cccaagtatt cccggcctcc ttcctgtatc
     3121 ctgagctcac gcccagcaga gccatccttg gggctctgga gggtcaccaa ccctcccagt
     3181 ttgctggaac taaatggtta tgcaggactt tcagtgttga aagaaagcct cgggcaaact
     3241 gggctgactc tttcacttta accctggtct ctggcgtctg ctcacccagc tg
//